Search Results - "Latronico, A"

Mutations of the KISS1 Gene in Disorders of Puberty by Silveira, L. G., Noel, S. D., Silveira-Neto, A. P., Abreu, A. P., Brito, V. N., Santos, M. G., Bianco, S. D. C., Kuohung, W., Xu, S., Gryngarten, M., Escobar, M. E., Arnhold, I. J. P., Mendonca, B. B., Kaiser, U. B., Latronico, A. C.

“…Context: Kisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor…”
Get full text

Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation by Charmandari, E, Guan, R, Zhang, M, Silveira, L. G, Fan, Q. R, Chrousos, G. P, Sertedaki, A. C, Latronico, A. C, Segaloff, D. L

“…We demonstrate 2 novel mutations of the LHCGR, each homozygous, in a 46,XY patient with severe Leydig cell hypoplasia. One is a mutation in the signal peptide…”
Get full text

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations by Damiani, F. M., Martin, R. M., Latronico, A. C., Ferraz-de-Souza, B.

“…Summary Adding to the debate around vitamin D’s effects on skeletal health, we report the long-term follow-up of two patients with severe vitamin D receptor…”
Get full text

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line by Ribeiro, T C, Jorge, A A, Montenegro, L R, Almeida, M Q, Ferraz-de-Souza, B, Nishi, M Y, Mendonca, B B, Latronico, A C

“…Type 1 insulin-like growth factor receptor (IGF-1R) is overexpressed in a variety of human cancers, including adrenocortical tumors. The aim of the work was to…”
Get more information

Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels by Cunha-Silva, M, Brito, V N, Macedo, D B, Bessa, D S, Ramos, C O, Lima, L G, Barroso, P S, Arnhold, I J P, Segaloff, D L, Mendonca, B B, Latronico, A C

“…Abstract Testotoxicosis is a rare cause of peripheral precocious puberty in boys caused by constitutively activating mutations of the LHCG receptor. Affected…”
Get full text

DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis by de Sousa, G R V, Soares, I C, Faria, A M, Domingues, V B, Wakamatsu, A, Lerario, A M, Alves, V A F, Zerbini, M C N, Mendonca, B B, Fragoso, M C B V, Latronico, A C, Almeida, M Q

“…DAX1 transcription factor is a key determinant of adrenogonadal development, acting as a repressor of SF1 targets in steroidogenesis. It was recently…”
Get more information

The molecular pathogenesis of childhood adrenocortical tumors by Almeida, M Q, Latronico, A C

“…Adrenocortical tumors in children and adolescents are rare events. However, the high incidence of adrenocortical tumors in children from the Southern region of…”
Get more information

Adrenocortical carcinoma : Clinical and laboratory observations by WAJCHENBERG, B. L, ALBERGARIA PEREIRA, M. A, MEDONCA, B. B, LATRONICO, A. C, CAMPOS CARNEIRO, P, FERREIRA ALVES, V. A, ZERBINI, M. C. N, LIBERMAN, B, GOMES, G. C, KIRSCHNER, M. A

“…The clinical features and natural history of adrenocortical carcinoma are highly dependent on the type of center reporting their experience. Observations from…”
Get full text

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism by Teles, M G, Trarbach, E B, Noel, S D, Guerra-Junior, G, Jorge, A, Beneduzzi, D, Bianco, S D, Mukherjee, A, Baptista, M T, Costa, E M, De Castro, M, Mendonça, B B, Kaiser, U B, Latronico, A C

“…ContextLoss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic…”
Get full text

Mutational Analysis of the Genes Encoding RFAmide-Related Peptide-3, the Human Orthologue of Gonadotrophin-Inhibitory Hormone, and its Receptor (GPR147) in Patients with Gonadotrophin-Releasing Hormone-Dependent Pubertal Disorders by Lima, C. J. G., Cardoso, S. C., Lemos, E. F. L., Zingler, E., Capanema, C., Menezes, L. D., Vogado, G., dos Santos, B. T. A., de Moraes, O. L., Duarte, E. F., de Brito, V. N., Latronico, A. C., Lofrano-Porto, A.

“…RFamide‐related peptide‐3 (RFRP‐3), the orthologue of avian gonadotrophin‐inhibitory hormone, and its receptor GPR147 have been recently identified in the…”
Get full text

Extensive personal experience: Adrenocortical tumors by LATRONICO, A. C, CHROUSOS, G. P

Get full text

Diagnostic value of fluorometric assays in the evaluation of precocious puberty by BRITO, V. N, BATISTA, M. C, BORGES, M. F, LATRONICO, A. C, KOHEK, M. B. F, THIRONE, A. C. P, JORGE, B. H, ARNHOLD, I. J. P, MENDONCA, B. B

“…To establish normative data and determine the value of fluorometric AutoDELFIA assays (Wallac Oy) in the investigation of precocious puberty, we determined…”
Get full text

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction by Costa, E M, Bedecarrats, G Y, Mendonca, B B, Arnhold, I J, Kaiser, U B, Latronico, A C

“…Several point mutations in the GnRH receptor gene have been described in an autosomal recessive form of congenital isolated hypogonadotropic hypogonadism (HH)…”
Get full text

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene by MENDONCA, B. B, OSORIO, M. G. F, LATRONICO, A. C, ESTEFAN, V, SUH SIH LO, L, ARNHOLD, I. J. P

“…Genomic DNA from 18 patients with combined pituitary hormone deficiency was screened for 2-bp deletion (A301,G302) in PROP1 gene by BcgI restriction…”
Get full text

Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors by Latronico, Ana Claudia, Segaloff, Deborah L.

Get full text

Mutations of the KISS1 Gene Associated with Central Precocious Puberty by Silveira, L. F. G, Noel, S. D, Silveira-Neto, A. P, Abreu, A. P, Brito, V. N, Santos, M. AG, Bianco, S. D. C, Kuohung, W, Xu, S, Gryngarten, M, Escobar, M. E, Arnhold, I. J. P, Mendonca, B. B, Kaiser, U. B, Latronico, A. C

“…ContextKisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor (KISS1R)…”
Get full text

Mutations of the KISS1 Gene Associated with Central Precocious Puberty by Silveira, L. F. G, Noel, S. D, Silveira-Neto, A. P, Abreu, A. P, Brito, V. N, Santos, M. AG, Bianco, S. D. C, Kuohung, W, Xu, S, Gryngarten, M, Escobar, M. E, Arnhold, I. J. P, Mendonca, B. B, Kaiser, U. B, Latronico, A. C

Get full text

Inhibin α-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers by Longui, C A, Lemos-Marini, S H V, Figueiredo, B, Mendonca, B B, Castro, M, Liberatore, R, Watanabe, C, Lancellotti, C L P, Rocha, M N, Melo, M B, Monte, O, Calliari, L E P, Guerra-Junior, G, Baptista, M T M, Sbragia-Neto, L, Latronico, A C, Moreira, A, Tardelli, A M D, Nigri, A, Taymans, S E, Stratakis, C A

“…The R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumour (ACT) formation in Brazilian and possibly other…”
Get full text

A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty by LATRONICO, A. C, ABELL, A. N, ARNHOLD, I. J. P, LIU, X, LINS, T. S. S, BRITO, V. N, BILLERBECK, A. E, SEGALOFF, D. L, MENDONCA, B. B

“…Several constitutively activating mutations have been demonstrated in the sixth transmembrane helix of the human LH receptor (hLHR) in boys with…”
Get full text

Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1 by OSORIO, M. G. F, KOPP, P, MARUI, S, LATRONICO, A. C, MENDONCA, B. B, ARNHOLD, I. J. P

“…Mutations in the pituitary-specific paired-like homeodomain transcription factor, PROP-1, result in combined pituitary hormone deficiency. We studied a…”
Get full text